ID   HIHCNi001-A
AC   CVCL_VG85
SY   iPSC-STUB1
DR   hPSCreg; HIHCNi001-A
DR   Wikidata; Q54889541
RX   PubMed=29679845;
CC   From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
CC   Sequence variation: Mutation; HGNC; 11427; STUB1; Simple; p.Arg119Ter (c.355C>T); Zygosity=Heterozygous (PubMed=29679845).
CC   Sequence variation: Mutation; HGNC; 11427; STUB1; Simple; p.Ile294Phe (c.880A>T); Zygosity=Heterozygous (PubMed=29679845).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C150250; Spinocerebellar ataxia type 16
DI   ORDO; Orphanet_412057; Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29679845; DOI=10.1016/j.scr.2018.04.001;
RA   Schuster S., Schelling Y., Synofzik M., Hoflinger P., Schols L.,
RA   Hauser S.;
RT   "Establishment of STUB1/CHIP mutant induced pluripotent stem cells
RT   (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.";
RL   Stem Cell Res. 29:166-169(2018).
//